Our Work
Research Directions
PKHD1 Variant Discovery & Annotation
We systematically catalogue and annotate PKHD1 variants identified in published ARPKD cohorts. Our curated database now encompasses over 1,000 patient records, enabling large-scale genotype-phenotype analyses that would be impossible from individual studies alone.
Functional Variant Characterisation
For variants of uncertain significance (VUS), we develop cellular and molecular assays to determine pathogenicity. Using patient-derived iPSC models and kidney organoids, we assess fibrocystin localisation, cilia formation and downstream signalling.
Genotype-Phenotype Correlations
By integrating molecular data with deep clinical phenotyping, we identify variant classes that predict disease severity, rate of progression, and extra-renal involvement. This work directly informs genetic counselling and prognostic guidance.
Non-Communicable Disease Epidemiology
Non-communicable diseases (NCDs) — including chronic kidney disease, cardiovascular disease, and metabolic disorders — account for the majority of premature mortality worldwide and represent one of the defining global health challenges of our time. Understanding how these conditions arise, progress and interact across populations is considered essential not only for improving individual patient outcomes but for informing public health strategy at scale.